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CMT Advanced Evaluation - Dominant
Test Code901154
CPT Codes
81448
Includes
DNM2 DNA Sequencing Test, EGR2 DNA Sequencing Test, GARS (CMT2D) DNA Sequencing Test, HSPB1 (CMT2F) DNA Sequencing Test, HSPB8 DNA Sequencing Test, LITAF/SIMPLE DNA Sequencing Test, MFN2 DNA Sequencing Test, Myelin Protein Zero (MPZ) DNA Sequencing Test, Neurofilament Light (NFL) DNA Sequencing Test, PMP22 DNA Sequencing Test, PMP22 Duplication/Deletion DNA Test, RAB7 (CMT2B) DNA Sequencing test, TRPV4 DNA Sequencing Test, YARS DNA Sequencing Test
Note: Test will be performed in a reflexive manner. PMP22 Duplication/deletion testing will be performed first via MLPA and all non-positives will reflex to Next Generation Sequencing of all remaining genes and MLPA analysis of GJB1 (Cx32).
Note: Test will be performed in a reflexive manner. PMP22 Duplication/deletion testing will be performed first via MLPA and all non-positives will reflex to Next Generation Sequencing of all remaining genes and MLPA analysis of GJB1 (Cx32).
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes
Pediatric (0-3 Years): 2 mL
Pediatric (0-3 Years): 2 mL
Minimum Volume
6 mL • Pediatric: 1 mL
Instructions
Informed consent is required.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requistion form.
Stability Restrictions: Do not freeze.
Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requistion form.
Stability Restrictions: Do not freeze.
Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Next Generation Sequencing • Multiplex Ligation-dependent Probe Amplification (MLPA)
Setup Schedule
Set up: Varies; Report available: 21-28 days
Reference Range
No duplications/deletions detected, no sequence variation detected
Clinical Significance
Detects duplications/deletions in PMP22 and sequence variations in MFN2, MPZ, PMP22, EGR2, LITAF, RAB7, GARS, NFL, HSPB1, DNM2, YARS, TRPV4, HSPB8
Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752
